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718576001: Hydrocephalus with cleft palate and joint contracture syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3312818014 Hydrocephalus with cleft palate and joint contracture syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312819018 Hydrocephalus with cleft palate and joint contracture syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312820012 Aase Smith type 1 syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3312837017 Aase Smith I syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3312822016 A very rare genetic disorder with characteristics of the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate and severe joint contractures. Less than 20 cases have been reported in the literature. The fingers are thin with absent knuckles and reduced creases over the joints and patients show an inability to make a full fist. Additional findings may include deformed ears, ptosis, an inability to open the mouth fully, heart defects, and clubfoot. There are currently no human genes associated with this disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Is a Dandy-Walker syndrome true Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Is a Cleft palate true Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Is a Arthrogryposis false Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Some 8
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Occurrence Congenital true Inferred relationship Some 8
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Limb structure false Inferred relationship Some 8
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Cerebellar vermis structure false Inferred relationship Some 9
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Occurrence Congenital true Inferred relationship Some 10
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Occurrence Congenital false Inferred relationship Some 11
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology Congenital failure of fusion false Inferred relationship Some 13
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Occurrence Congenital false Inferred relationship Some 13
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Palatal structure false Inferred relationship Some 13
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Occurrence Congenital false Inferred relationship Some 9
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Some 10
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Face structure false Inferred relationship Some 10
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology Congenital cavitation false Inferred relationship Some 8
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Infratentorial brain structure (body structure) true Inferred relationship Some 8
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Occurrence Congenital false Inferred relationship Some 12
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology Contracture false Inferred relationship Some 11
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Joint structure false Inferred relationship Some 11
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Some 12
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Brain cerebrospinal fluid pathway false Inferred relationship Some 12
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Cerebellar vermis structure false Inferred relationship Some 14
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology Aplasia false Inferred relationship Some 9
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology anomalie congénitale false Inferred relationship Some 14
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Lateral aperture of fourth ventricle false Inferred relationship Some 14
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Foramen of Magendie false Inferred relationship Some 14
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology Congenital cavitation false Inferred relationship Some 15
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Infratentorial brain structure (body structure) false Inferred relationship Some 15
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Palatal structure true Inferred relationship Some 1
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Occurrence Congenital true Inferred relationship Some 7
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Is a Inherited arthrogryposis true Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Limb structure true Inferred relationship Some 4
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 7
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 8
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology Contracture true Inferred relationship Some 2
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Joint structure false Inferred relationship Some 2
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Face structure true Inferred relationship Some 3
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Cerebellar vermis structure true Inferred relationship Some 6
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Occurrence Congenital true Inferred relationship Some 6
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology Congenital malrotation (morphologic abnormality) true Inferred relationship Some 5
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 6
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Cerebellar vermis structure true Inferred relationship Some 5
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Fourth ventricle structure true Inferred relationship Some 7
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology Congenital cavitation false Inferred relationship Some 7
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology Cystic dilatation (morphologic abnormality) true Inferred relationship Some 8
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology Cystic dilatation (morphologic abnormality) true Inferred relationship Some 7
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Interprets Range of joint movement true Inferred relationship Some 9
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Structure of joint region true Inferred relationship Some 2
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Has interpretation Decreased true Inferred relationship Some 9
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 10
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 10
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Finding site Bone structure of head true Inferred relationship Some 10
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Is a Congenital abnormality of skull and face bones true Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Is a Extrapyramidal disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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